Cited by 43Metabolism and Genetic DisordersHereditary Neurological DisordersLysosomal Storage Disorders Research

Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival

Barth, P. G., Majoie, C. B.L.M., Gootjes, J., Wanders, R. J.A., Waterham, H. R., van der Knaap, M. S., de Klerk, J. B.C., Smeitink, J. +1 more·2004·Neurology

Abstract

OBJECTIVE: To define neuroimaging characteristics of peroxisome biogenesis disorders (PBD) with prolonged survival belonging to the Zellweger spectrum (ZeS). METHODS: The authors studied MR images of 25 patients surviving the first year. Neuroimages were compared to neurologic profiles, PBD-ZeS specific compound developmental scores, and two common PEX1 mutations. RESULTS: Three groups are defined based on normal findings, developmental anomalies, and regressive changes. Regressive changes consisting of leukoencephalopathy were identified in patients who had either stable clinical course or progressive deterioration. Concomitant neocortical atrophy was encountered in a minority. Leukoencephalopathy with stable clinical course represents the largest subgroup (48%). The authors found the central cerebellar white matter a focus for early changes in both asymptomatic and symptomatic leukoencephalopathy. A relationship between white matter involvement in clinically stable leukoencephalopathy and degree of developmental failure could not be established. The common homozygous PEX1 G843D mutation is represented in the three main outcome groups. This result points to variable phenotypic expression of the most common PEX1 mutation. CONCLUSIONS: MR findings in ZeS patients surviving the first year differ from Zellweger syndrome in predominance of regressive over developmental changes. Distribution pattern suggests identical pathomechanisms for symptomatic and asymptomatic leukoencephalopathy.

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Crossref · 10.1212/01.wnl.0000106943.40848.03

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  • Neurological manifestations in PBD vary from primarily neurodevelopmental alterations in the most severe phenotypes to mainly degenerative abnormalities in the milder cases.

    “In accordance, also the neurological manifestations vary from primarily neurodevelopmental alterations in the most severe phenotypes to mainly degenerative abnormalities in the milder cases [48].”

    From Peroxisomes in brain development and function (2016) · cites this paper as [48]

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Authors
Barth, P. G., Majoie, C. B. L. M., Gootjes, J., Wanders, R. J. A., Waterham, H. R., van der Knaap, M. S., de Klerk, J. B. C., Smeitink, J., & Poll-The, B. T.
Affiliations
  • Amsterdam UMC Location University of Amsterdam (NL)
  • From the Departments of Pediatric Neurology (Drs. Barth and Poll-The) and Pediatrics (Drs. Wanders and Waterham, J. Gootjes) and the Laboratory of Genetic Metabolic Disease (Drs. Wanders and Waterham, J. Gootjes), Emma Children’s Hospital, and the Department of Radiology (Dr. Majoie), Academic Medical Center, University of Amsterdam; the Department of Child Neurology (Dr. van der Knaap), Vrije Universiteit Medical Center, Amsterdam; the Department of Pediatrics, Sofia Children’s Hospital (Dr. de...
Venue
Neurology
Published
2004-02-10
Volume
62
Issue
3
Pages
439-444
ISSN
  • 0028-3878 (ISSN-L)
  • 1526-632X
OpenAlex
W2143020603
Cited by
43
References
24
Citations by year
2026: 3 · 2025: 3 · 2024: 2 · 2021: 1 · 2020: 1 · 2018: 1 · 2017: 1 · 2016: 2 · 2015: 5 · 2014: 1 · 2013: 3 · 2012: 5
FWCI
1.63
Type
journal article
Language
en
Open access
closed
Locations
  • Neurology (publishedVersion)
  • PubMed (publishedVersion)
  • Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion)
  • EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
  • Data Archiving and Networked Services (DANS) (submittedVersion)
  • EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
  • Pure Amsterdam UMC (submittedVersion)
  • Radboud Repository (Radboud University) (submittedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
  • Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
Keywords
peroxisome biogenesis disorders, Zellweger syndrome, leukoencephalopathy, cerebellar white matter, development failure, phenotypic variability, MRI findings, long-term survival
MeSH terms
ATPases Associated with Diverse Cellular Activities, Adolescent, Adult, Atrophy, Cerebral Ventricles, Child, Child, Preschool, Female, Humans, Infant, Male, Membrane Proteins, Myelin Sheath, Phenotype, Zellweger Syndrome, Survival Analysis, Disease Progression, Neocortex, Amino Acid Substitution, Mutation, Missense

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